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Background <p>Phenylketonuria (PKU) is a rare disease. Children who are diagnosed with PKU often encounter psycho-behavioral difficulties, which can significantly impact quality of life and social integration. The aim of this study was to evaluate the prevalence of psycho-behavioral difficulties and explore potential factors associated with their occurrence in PKU children aged 6–18&#xa0;years. </p> Methods <p>From May 2022 to May 2024, 100 children with PKU were recruited using a questionnaire-based survey. Data were analyzed using the STATA (version 18.0) and R programming language (version 4.3.3).</p> Results <p>25% of children aged 6–18&#xa0;years with PKU exhibited psycho-behavioral problems. Significant factors associated with psycho-behavioral problems in study children included body mass index (multi-adjusted odds ratio, 95% confidence interval, P: 1.135, 1.010–1.276, 0.033), age (3.169, 1.024–9.804, 0.045), pregnancy order (0.143, 0.033–0.607, 0.008), delivery order (0.041, 0.004–0.373, 0.005), mode of disease diagnosis (5.730, 1.935–16.963, 0.002), and dietary therapy pressure (3.321, 1.083–10.181, 0.036). Based on these significant factors, a nomogram model was constructed with descent prediction capability and accuracy.</p> Conclusions <p>We identified six factors closely associated with psycho-behavioral problems in PKU children, offering insights into risk profiles underlying these problems and guiding the formulation of effective prevention strategies.</p>

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Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6–18 years

  • 期刊论文

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  • 发表日期：

    2025年6月11日

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  • Mei Xue,
  • Ming Shen,
  • Shunan Wang,
  • Bo Pang,
  • Xiaoqian Zhang,
  • Kening Chen,
  • Zhixin Zhang,
  • Wenquan Niu

摘要

Background

Phenylketonuria (PKU) is a rare disease. Children who are diagnosed with PKU often encounter psycho-behavioral difficulties, which can significantly impact quality of life and social integration. The aim of this study was to evaluate the prevalence of psycho-behavioral difficulties and explore potential factors associated with their occurrence in PKU children aged 6–18 years.

Methods

From May 2022 to May 2024, 100 children with PKU were recruited using a questionnaire-based survey. Data were analyzed using the STATA (version 18.0) and R programming language (version 4.3.3).

Results

25% of children aged 6–18 years with PKU exhibited psycho-behavioral problems. Significant factors associated with psycho-behavioral problems in study children included body mass index (multi-adjusted odds ratio, 95% confidence interval, P: 1.135, 1.010–1.276, 0.033), age (3.169, 1.024–9.804, 0.045), pregnancy order (0.143, 0.033–0.607, 0.008), delivery order (0.041, 0.004–0.373, 0.005), mode of disease diagnosis (5.730, 1.935–16.963, 0.002), and dietary therapy pressure (3.321, 1.083–10.181, 0.036). Based on these significant factors, a nomogram model was constructed with descent prediction capability and accuracy.

Conclusions

We identified six factors closely associated with psycho-behavioral problems in PKU children, offering insights into risk profiles underlying these problems and guiding the formulation of effective prevention strategies.